Congestive heart failure, and Skin rash

Diseases related with Congestive heart failure and Skin rash

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Skin rash that can help you solving undiagnosed cases.


Top matches:

Medium match NAKAJO-NISHIMURA SYNDROME


Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

Medium match KAWASAKI DISEASE


Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

KAWASAKI DISEASE Is also known as kd|infantile polyarteritis|mucocutaneous lymph node syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Ptosis
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KAWASAKI DISEASE

Low match PSEUDOXANTHOMA ELASTICUM


Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

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Other less relevant matches:

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1


This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Low match TUBEROUS SCLEROSIS 1; TSC1


Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

Low match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

Low match SARCOIDOSIS


Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Low match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Low match POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1


Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

Top 5 symptoms//phenotypes associated to Congestive heart failure and Skin rash

Symptoms // Phenotype % cases
Arrhythmia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Subcutaneous nodule Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
Elevated erythrocyte sedimentation rate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Skin rash. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypothyroidism Edema Fever Intellectual disability Dilatation Hepatomegaly Erythema Scoliosis Arthritis Cataract Short stature Headache Pain Renal insufficiency Arthralgia Intellectual disability, mild Hyperhidrosis Chest pain Cough Dyspnea Attention deficit hyperactivity disorder Cardiomyopathy Failure to thrive Hypertension Visual impairment Growth delay Coronary artery atherosclerosis Myocardial infarction Anemia Mitral regurgitation Tubulointerstitial nephritis Recurrent infections Thrombocytopenia Interstitial pulmonary abnormality Ischemic stroke Muscle weakness Behavioral abnormality Scarring Skeletal muscle atrophy Splenomegaly Sudden cardiac death Telangiectasia of the skin Thick lower lip vermilion Papule Stroke Increased antibody level in blood Cardiomegaly Sensorineural hearing impairment Clubbing of fingers Ptosis Fatigue Erythema nodosum

Rare Symptoms - Less than 30% cases


Osteopenia Immunodeficiency Abnormal mitral valve morphology Hyperpigmentation of the skin Camptodactyly of finger Abnormality of the liver Tricuspid regurgitation Hemiplegia/hemiparesis Elevated hepatic transaminase Hepatosplenomegaly Hypermelanotic macule Retinal hemorrhage Chorioretinal atrophy Hyperkeratotic papule Mitral stenosis Flexion contracture Peripheral arterial stenosis Abnormal endocardium morphology Angina pectoris Abnormal thrombocyte morphology Eczema Restrictive cardiomyopathy Respiratory distress Pneumothorax Hydrocephalus Ventricular tachycardia Uveitis Peripheral neuropathy Proximal muscle weakness Syncope Pancytopenia Palpitations Abnormal lung morphology Anorexia Diabetes insipidus Osteolysis Emphysema Wheezing Abnormality of the gastrointestinal tract Heart murmur Hearing impairment Optic atrophy Constipation Tachycardia Myalgia Eosinophilia Corneal opacity Vomiting Tachypnea Glaucoma Carcinoma Intellectual disability, moderate Abnormality of the kidney Abnormality of the cerebral white matter Nausea Retinal detachment Hypopigmentation of the skin Blue sclerae Finger syndactyly Chylothorax Global developmental delay Strabismus Muscular hypotonia Spasticity Cognitive impairment Microphthalmia Alopecia Hyperkeratosis Nephrocalcinosis Immune dysregulation Mitral valve prolapse Recurrent pharyngitis Lipodystrophy Prominent nose Small for gestational age Hematuria Nausea and vomiting Abnormality of cardiovascular system morphology Blindness Conjunctivitis Intrauterine growth retardation Abnormal myocardium morphology Macroglossia Irritability Aortic root aneurysm Proteinuria Leukocytosis Decreased liver function Pruritus Abnormality of skin pigmentation Abdominal pain Cerebral calcification Microcytic anemia Respiratory insufficiency Macrotia Diarrhea Abnormality of the cardiovascular system Abnormal heart valve morphology Bruising susceptibility Postural instability High-frequency hearing impairment Abnormality of the renal tubule Abnormality of femur morphology Supraventricular tachycardia Heat intolerance Abnormal thrombosis Myocardial fibrosis Tubulointerstitial fibrosis Congenital thrombocytopenia Abnormality of the nose Reduced ejection fraction Asymmetric septal hypertrophy Sinus bradycardia Chronic pain Abnormal renal physiology Miosis Chronic fatigue Abnormal aortic valve morphology Gastrointestinal dysmotility Chronic obstructive pulmonary disease Abnormal cornea morphology Periorbital fullness Achalasia T-wave inversion Abnormality of cardiovascular system physiology Dysesthesia Internal hemorrhage Decreased lacrimation Angiokeratoma corporis diffusum Shortened QT interval Hyposthenuria Impaired temperature sensation Obstructive lung disease Angiokeratoma Reduced sperm motility Increased blood urea nitrogen Giant platelets Toe clinodactyly Abnormality of the anus Annular pancreas Distal renal tubular acidosis Arteria lusoria Supraventricular arrhythmia Vascular skin abnormality Conjunctival telangiectasia Microalbuminuria Primary hypothyroidism Biventricular hypertrophy Megakaryocyte dysplasia Decreased female libido Retinal vascular tortuosity Vascular tortuosity Corneal crystals Limb pain Abnormality of temperature regulation Nephrogenic diabetes insipidus Bilateral camptodactyly Decreased glomerular filtration rate Large earlobe Progressive muscle weakness Abnormality of the curvature of the vertebral column Aminoaciduria Lymphedema Bradycardia Fasciculations Abnormal autonomic nervous system physiology Spontaneous abortion Exercise intolerance Purpura Left ventricular hypertrophy Hyperlipidemia Aortic regurgitation Abnormal intestine morphology Progressive hearing impairment Corneal dystrophy Reduced bone mineral density Hypohidrosis Atrial fibrillation Tinnitus Thick vermilion border Paresthesia Vertigo Stage 5 chronic kidney disease Bulbous nose Thick eyebrow Gastrointestinal inflammation Nephropathy Ventricular hypertrophy Pyelonephritis Severe failure to thrive Muscle cramps Abdominal distention Urinary incontinence Hypotension Nephrotic syndrome Ventricular arrhythmia Easy fatigability Myopathy Transient ischemic attack Glycosuria Renal tubular acidosis Abnormality of lipid metabolism Psoriasiform dermatitis Abnormal EKG Xerostomia Renal tubular dysfunction Celiac disease Edema of the lower limbs Elevated serum creatinine Coronary artery stenosis Tubular atrophy Dilated cardiomyopathy Oligospermia Elevated serum creatine phosphokinase Glomerulopathy Orthostatic hypotension Atrioventricular block Personality changes Chronic kidney disease Prominent supraorbital ridges Abnormality of the hand Hemiplegia Glomerulosclerosis Polydipsia Progressive proximal muscle weakness Progressive sensorineural hearing impairment Clubbing Impaired vibratory sensation Polyuria Anhidrosis Loss of consciousness Bundle branch block Impotence Shortened PR interval Tortuosity of conjunctival vessels Concentric hypertrophic cardiomyopathy Leukemia Camptodactyly Feeding difficulties in infancy Postnatal growth retardation Craniosynostosis Coloboma Abnormal cardiac septum morphology Neurological speech impairment Telecanthus Hip dislocation Flat occiput Dolichocephaly Toe syndactyly Narrow chest Facial asymmetry Low-set, posteriorly rotated ears Aplasia/Hypoplasia of the eyebrow Smooth philtrum Double outlet right ventricle Thin upper lip vermilion Hypoglycemia Chronic constipation Retinal dysplasia Diastasis recti Missing ribs Hydronephrosis Hypoplastic left heart Abnormal eyelash morphology Bipolar affective disorder Transposition of the great arteries Natal tooth Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Talipes Anal atresia Pes planus Pyloric stenosis Sinusitis Short toe Leukodystrophy Aortic valve stenosis Spina bifida Hand polydactyly Bone marrow hypocellularity Amblyopia Horseshoe kidney Multicystic kidney dysplasia Holoprosencephaly Azoospermia Abnormal palate morphology Infantile muscular hypotonia Schizophrenia Short thumb Pachygyria Iris coloboma Growth hormone deficiency Single transverse palmar crease Microcornea Premature birth Intestinal malrotation Decreased antibody level in blood Webbed neck Otitis media Abnormal form of the vertebral bodies Microdontia Hammertoe Dehydration Chorioretinal coloboma Ectropion Coarctation of aorta Trigonocephaly Eyelid coloboma Retrognathia Mucosal telangiectasiae Low-set ears Generalized hypotonia Microcephaly Hypertelorism Micrognathia Abnormal facial shape Cryptorchidism Feeding difficulties Abnormal glomerular filtration rate Depressed nasal bridge Central hypothyroidism Epicanthus Brachydactyly Wide nasal bridge Macrocephaly Downslanted palpebral fissures Cornea verticillata Abnormality of the common coagulation pathway Ventricular septal defect Left ventricular septal hypertrophy Unexplained fevers ST segment depression Functional abnormality of the gastrointestinal tract Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Abnormality of the forehead Tenesmus Increased glomerular filtration rate Macular hypoplasia Heavy proteinuria Clitoral hypoplasia Acroparesthesia Abnormal common carotid artery morphology Abnormal ST segment Increased carotid artery intimal medial thickness Frontal bossing Talipes equinovarus High forehead Abnormal heart morphology Cerebral atrophy Hernia Hypospadias Pectus excavatum Clinodactyly Patent ductus arteriosus Malabsorption Syndactyly Inguinal hernia Clinodactyly of the 5th finger Agenesis of corpus callosum Recurrent respiratory infections Prominent forehead Osteoporosis Hypogonadism Duodenal atresia Ectopic anus Ventriculomegaly Atrial septal defect Anteverted nares Short neck U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Nasolacrimal duct obstruction Broad hallux phalanx Broad columella Abnormality of the dentition Short nose Labial hypoplasia Long philtrum Aplasia/Hypoplasia of the earlobes Nuclear cataract Delayed puberty Bronchiectasis Prominent nasal bridge Peau d'orange Subcutaneous calcification Arterial calcification Localized skin lesion Generalized arterial calcification Medial calcification of large arteries Peripapillary chorioretinal atrophy Subretinal fluid Accelerated atherosclerosis Erythematous papule Premature occlusive vascular stenosis Medial calcification of medium-sized arteries Abnormal atrioventricular valve morphology Medial calcification of small arteries Babinski sign Vascular calcification Civatte bodies Hypertriglyceridemia Excessive wrinkled skin Abnormality of the cerebral vasculature Lack of skin elasticity Redundant neck skin Pulmonary edema Arterial stenosis Arteriosclerosis Pulmonary insufficiency Abnormality of connective tissue Ectopic calcification Choroidal neovascularization Intermittent claudication Angioid streaks of the fundus Metamorphopsia Renovascular hypertension Inability to walk Bone pain Thickened nuchal skin fold Brain atrophy Autism Autistic behavior Sleep disturbance Renal cyst Gliosis Nevus Focal-onset seizure Hyperactivity Specific learning disability Generalized-onset seizure Heterotopia Hypoplasia of dental enamel Cafe-au-lait spot CNS hypomyelination Respiratory failure Neoplasm Lymphopenia Myositis Elbow flexion contracture Growth abnormality Glucose intolerance Long fingers Basal ganglia calcification Rimmed vacuoles Abnormally large globe Adipose tissue loss Generalized lipodystrophy Flexion contracture of toe Hypochromic anemia Panniculitis Episcleritis Stiff skin Finger swelling Drusen Abnormality of the mouth Precocious puberty Myocarditis Cranial nerve paralysis Hypoalbuminemia Scaling skin Hyponatremia Pericarditis Acute kidney injury Allergy Meningitis Inflammatory abnormality of the eye Elevated C-reactive protein level Cheilitis Synovitis Ascending tubular aorta aneurysm Cholecystitis Vasculitis Cholestasis Glossitis Right bundle branch block Joint stiffness Abnormal pyramidal sign Arthrogryposis multiplex congenita Arachnodactyly Abnormality of the face Hyperostosis Lipoatrophy Hepatitis Episodic fever Clubbing of toes Abnormality of the Leydig cells Jaundice Respiratory tract infection Migraine Abnormal oral mucosa morphology Arteritis Severe intrauterine growth retardation Intracranial hemorrhage Abnormality of the skin Macular degeneration Atherosclerosis Cutis laxa Hyperextensible skin Redundant skin Abnormality of the thorax Joint hyperflexibility Acne Cutis marmorata Abnormal retinal morphology Multiple lipomas Striae distensae Severe vision loss Gastrointestinal hemorrhage Retinopathy Abnormal pericardium morphology Pyuria Conjunctival hyperemia CSF pleocytosis Cervical lymphadenopathy Coronary artery aneurysm Abnormality of nail color Arthralgia/arthritis Abnormal emotion/affect behavior Reduced visual acuity Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Strawberry tongue Aseptic leukocyturia Abnormal gallbladder morphology High palate Myopia Visual loss Polycystic kidney dysplasia Aortic aneurysm Developmental regression Macular edema Optic neuropathy Joint swelling Heart block Increased CSF protein Hypothermia Upper airway obstruction Bone cyst Keratoconjunctivitis sicca Skin nodule Night sweats Anterior synechiae of the anterior chamber Abnormality of the pleura Vitreous hemorrhage Cystoid macular edema Hemoptysis Hyperuricemia Generalized lymphadenopathy Hypercalcemia Facial palsy Hepatic failure Hemolytic anemia Nephrolithiasis Leukopenia Hypercalciuria Portal hypertension Hyperthyroidism Pleural effusion Inflammation of the large intestine Epiphora Pulmonary fibrosis Blurred vision Abnormality of the musculature Abnormality of the cerebrospinal fluid Skin plaque Weight loss Midface retrusion Abnormality of the nasal mucosa Maculopapular exanthema Enlarged lacrimal glands Vitreous snowballs Pulmonary granulomatosis Abnormal trabecular meshwork morphology Depressivity Abnormal cardiac ventricular function Posteriorly rotated ears Mandibular prognathia Coarse facial features Anxiety Abnormality of the nervous system Hypertrophic cardiomyopathy Increased T cell count Parotitis Abnormality of the lymph nodes Abnormal conjunctiva morphology Abnormality of the adrenal glands Chorioretinitis Dacryocystitis Anterior uveitis Abnormal salivary gland morphology Iridocyclitis Vitreous floaters Abnormal liver parenchyma morphology Vitritis Abnormal reproductive system morphology Abnormality of skin morphology Posterior vitreous detachment Enlargement of parotid gland Abnormality of T cell physiology Non-caseating epithelioid cell granulomatosis Photophobia Retinal vascular proliferation Nephroblastoma Dental enamel pits Premature chromatid separation Renal angiomyolipoma Angiofibromas Optic nerve glioma Subependymal nodules Hypomelanotic macule Ungual fibroma Shagreen patch Cardiac rhabdomyoma Cortical tubers Chordoma Pulmonary lymphangiomyomatosis Connective tissue nevi Rhabdomyoma Ependymoma Flank pain Achromatic retinal patches Generalized hypopigmentation Infantile spasms Hamartoma Renal cell carcinoma Hyperventilation Skin tags Abnormality of the respiratory system Renal neoplasm Adenoma sebaceum White hair Wolff-Parkinson-White syndrome Brain neoplasm Astrocytoma Gingival fibromatosis Fibroma Subungual fibromas Projection of scalp hair onto lateral cheek Broad nail Cerebral ischemia Irregular hyperpigmentation Hearing abnormality Abnormal toenail morphology Dystrophic toenail Hypoplastic fingernail Verrucae Deviation of finger Supernumerary nipple Supernumerary ribs Asymmetric growth Absent hand Abnormal chorioretinal morphology Ridged fingernail Abnormal hand morphology Abnormality of immune system physiology Keratitis Gait disturbance Pulmonary arterial hypertension Cerebral cortical atrophy Umbilical hernia Oral cleft Delayed eruption of teeth Hypodontia Abnormal blistering of the skin Skin ulcer Abnormality of dental morphology Abnormality of the hair Abnormality of the nail Abnormality of dental enamel Abnormality of the fingernails Spina bifida occulta Hypopigmented skin patches Encephalitis Pharyngitis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Spina bifida, related diseases and genetic alterations Autoimmunity and Muscle cramps, related diseases and genetic alterations

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